Detalhe da pesquisa
1.
Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil.
Eur J Neurol
; 24(7): 892-e36, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28560845
2.
Genetics Health Professionals' Views on Quality of Genetic Counseling Service Provision for Presymptomatic Testing in Late-Onset Neurological Diseases in Portugal: Core Components, Specific Challenges and the Need for Assessment Tools.
J Genet Couns
; 24(4): 616-25, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25363284
3.
Huntington disease and Huntington disease-like in a case series from Brazil.
Clin Genet
; 86(4): 373-7, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24102565
4.
The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin.
Nat Genet
; 29(2): 189-93, 2001 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-11586300
5.
A role for endothelin receptor type A in migraine without aura susceptibility? A study in Portuguese patients.
Eur J Neurol
; 18(4): 649-55, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20964792
6.
Large normal and reduced penetrance alleles in Huntington disease: instability in families and frequency at the laboratory, at the clinic and in the population.
Clin Genet
; 78(4): 381-7, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20236117
7.
Autosomal dominant cerebellar ataxia: frequency analysis and clinical characterization of 45 families from Portugal.
Eur J Neurol
; 17(1): 124-8, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19659750
8.
Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.
Brain
; 132(Pt 10): 2688-98, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19696032
9.
Quantifying Intra-Arterial Verapamil Response as a Diagnostic Tool for Reversible Cerebral Vasoconstriction Syndrome.
AJNR Am J Neuroradiol
; 41(10): 1869-1875, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32943423
10.
First mutation in the voltage-gated Nav1.1 subunit gene SCN1A with co-occurring familial hemiplegic migraine and epilepsy.
Cephalalgia
; 29(3): 308-13, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19220312
11.
Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families.
Acta Neurol Scand
; 119(2): 113-8, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18664244
12.
Huntington disease-like 2: the first patient with apparent European ancestry.
Clin Genet
; 73(5): 480-5, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18341606
13.
Two novel functional mutations in the Na+,K+-ATPase alpha2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes.
Clin Genet
; 73(1): 37-43, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18028456
14.
Gender equality in Machado-Joseph disease.
Nat Genet
; 11(2): 118-9, 1995 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-7550334
15.
Analysis of (CAG)n expansion in ATXN1, ATXN2 and ATXN3 in Chinese patients with multiple system atrophy.
Sci Rep
; 8(1): 3889, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29497168
16.
Does DNA methylation in the promoter region of the ATXN3 gene modify age at onset in MJD (SCA3) patients?
Clin Genet
; 79(1): 100-2, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21143471
17.
Study of three intragenic polymorphisms in the Machado-Joseph disease gene (MJD1) in relation to genetic instability of the (CAG)n tract.
Eur J Hum Genet
; 7(2): 147-56, 1999.
Artigo
em Inglês
| MEDLINE | ID: mdl-10196697
18.
Neurologic findings in Machado-Joseph disease: relation with disease duration, subtypes, and (CAG)n.
Arch Neurol
; 58(6): 899-904, 2001 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-11405804
19.
Improvement in the molecular diagnosis of Machado-Joseph disease.
Arch Neurol
; 58(11): 1821-7, 2001 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-11708990
20.
Limits of clinical assessment in the accurate diagnosis of Machado-Joseph disease.
Arch Neurol
; 53(11): 1168-74, 1996 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-8912491